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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1266841870
Gene: VAMP5
HGNC
NCBI
Linked Data
dbSNP Id:
rs1672506493
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.85589290del , CM000664.2:g.85589290del
GRCh38
NC_000002.11:g.85816413del , CM000664.1:g.85816413del
GRCh37
NC_000002.10:g.85669924del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000306384.5:c.4-2435del
MANE Select
ENSP00000305647.4:n.4-2435del
ENST00000306384.4:c.4-2435del
ENSP00000305647.4:n.4-2435del
NM_006634.2:c.4-2435del
NP_006625.1:n.4-2435del
NM_006634.3:c.4-2435del
MANE Select
NP_006625.1:n.4-2435del
Search 100 bp 5'
Search 100 bp 3'