Canonical Allele Identifier: PA645452459
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324096
ClinVar RCV Id: RCV000265415 RCV000320492 RCV000364673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gln1380His
CA10640064
NM_000088.4:c.4140G>C
CA400191944
NM_000088.4:c.4140G>T