Allele Registry

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.

Canonical Allele Identifier: PA2573060518

Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17228

ClinVar RCV Id: RCV000018768 RCV000479050 RCV001186047

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000081.2:p.Gly183Ser	CA006927 NM_000090.4:c.547G>A