×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2819116529
Gene: SAMM50
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.43998550del , CM000684.2:g.43998550del
GRCh38
NC_000022.10:g.44394430del , CM000684.1:g.44394430del
GRCh37
NC_000022.9:g.42725763del
NCBI36
NG_029743.1:g.4340del
NG_029743.2:g.4340del
Transcript Alleles
HGVS
Amino-acid change
ENST00000465768.1:n.79+8144del
Search 100 bp 5'
Search 100 bp 3'