ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139691042
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
850646
ClinVar RCV Id:
RCV001054858
RCV003117728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly578Ser
CA400215281
NM_000088.4:c.1732G>A