Canonical Allele Identifier: PA1139691004
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 863945
ClinVar RCV Id: RCV001071028
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly485Ala
CA400217616
NM_000088.4:c.1454G>C