ClinGen Allele Registry
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Canonical Allele Identifier:
PA891844597
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17345
ClinVar RCV Id:
RCV000018886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Glu615_Ala616delinsAsp
CA291544416
NM_000088.4:c.1845_1847del