ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766712
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387921
ClinVar RCV Id:
RCV000434472
RCV000634782
RCV000766766
RCV002328975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Arg3903Gln
CA1715302
NM_001378454.1:c.11708G>A