Canonical Allele Identifier: PA1139690809
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 871460
ClinVar RCV Id: RCV001091445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro333Leu
CA400221226
NM_000088.4:c.998C>T