ClinGen Allele Registry
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Canonical Allele Identifier:
PA658668665
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447141
ClinVar RCV Id:
RCV000516519
RCV000763408
RCV000707194
RCV004553128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly788Ser
CA291543403
NM_000088.4:c.2362G>A