ClinGen Allele Registry
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Canonical Allele Identifier:
PA645451916
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
376210
ClinVar RCV:
RCV000434641
RCV000540512
RCV000766720
RCV001125756
RCV001125757
RCV001127851
RCV002279198
ClinVar Variation:
387527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Pro417Ser
CA8645334
NM_000088.4:c.1249C>T