ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580103892
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2123349
ClinVar RCV Id:
RCV003055033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly467Ala
CA400218362
NM_000088.4:c.1400G>C