ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766171
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
221012
ClinVar RCV Id:
RCV000424086
RCV000445470
RCV000710528
RCV001082556
RCV002381711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Lys3435Glu
CA349410
NM_001378454.1:c.10303A>G