Canonical Allele Identifier: PA2741810479
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2758664
ClinVar RCV Id: RCV003517063
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Glu1397Asp
CA400191680
NM_000088.4:c.4191G>T
CA400191683
NM_000088.4:c.4191G>C