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: PA243857

Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 196731

ClinVar RCV Id: RCV000177594 RCV002228787

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000384.2:p.Pro701Thr	CA243856 NM_000393.5:c.2101C>A