Canonical Allele Identifier: PA2741810500
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3061969
ClinVar RCV Id: RCV003985011
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly1448Arg
CA400190214
NM_000088.4:c.4342G>C