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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:
CA2056293186
Gene: PGAM1P5
HGNC
NCBI
Linked Data
dbSNP Id:
rs2077782784
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.95566122_95566126del , CM000674.2:g.95566122_95566126del
GRCh38
NC_000012.11:g.95959898_95959902del , CM000674.1:g.95959898_95959902del
GRCh37
NC_000012.10:g.94484029_94484033del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000626376.2:n.219+14322_219+14326del
Search 100 bp 5'
Search 100 bp 3'