Canonical Allele Identifier: PA2741810076
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2736629
ClinVar RCV Id: RCV003518819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly173Arg
CA8645683
NM_000088.4:c.517G>A
CA400226139
NM_000088.4:c.517G>C