ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828763251
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
459861
ClinVar RCV Id:
RCV000559994
RCV000825112
RCV001566317
RCV002456083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Ile889Val
CA1713394
NM_001378454.1:c.2665A>G